Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1611801_1611809del , CM000668.2:g.1611801_1611809del | GRCh38 |
| NC_000006.11:g.1612036_1612044del , CM000668.1:g.1612036_1612044del | GRCh37 |
| NC_000006.10:g.1557035_1557043del | NCBI36 |
| NG_009368.1:g.6356_6364del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.1356_1364del MANE Select | ENSP00000493906.1:p.Gly453_Gly455del | |
| ENST00000380874.3:c.1356_1364del | ENSP00000370256.2:p.Gly453_Gly455del | |
| NM_001453.2:c.1356_1364del | NP_001444.2:p.Gly453_Gly455del | |
| NM_001453.3:c.1356_1364del MANE Select | NP_001444.2:p.Gly453_Gly455del |